Nabais Sa-De Vries Syndrome, Type 2 (NSDVS2)

Nabais Sa-De Vries Syndrome, Type 2(来自ICD-11)

别称:

Neurodevelopmental Disorder with Relative Macrocephaly and with or Without Cardiac or Endocrine Anomalies

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Nsdvs2

Nabais Sa-De Vries Syndrome 2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Nabais Sa-De Vries Syndrome, Type 2, is also known as neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies. An important gene associated with Nabais Sa-De Vries Syndrome, Type 2 is SPOP (Speckle Type BTB/POZ Protein). Affiliated tissues include heart and kidney, and related phenotypes are intellectual disability and delayed speech and language development

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